ClinVar Miner

Variants studied for malabsorption syndrome

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign association likely risk allele uncertain risk allele not provided total
109 101 869 481 129 5 3 1 10 1650

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association likely risk allele uncertain risk allele not provided total
STAT1 42 19 205 275 29 0 0 0 2 565
SI 18 65 364 62 22 0 0 0 0 516
FOXP3 33 12 150 121 44 0 3 1 0 334
SARM1, SLC46A1 4 1 72 10 23 0 0 0 4 111
LCT 0 0 40 8 7 0 0 0 0 55
SLC46A1 8 2 19 4 2 0 0 0 4 36
MCM6 1 0 7 0 0 5 0 0 0 13
LCT, LOC126806353 0 0 3 1 2 0 0 0 0 6
LOC130060550, SLC46A1 1 1 4 0 0 0 0 0 0 6
LOC130060548, SARM1, SLC46A1 0 0 2 0 0 0 0 0 0 2
AKAP4, ARAF, BMP15, CACNA1F, CCDC120, CCDC22, CCNB3, CDK16, CFP, CLCN5, DGKK, EBP, ELK1, ERAS, FOXP3, FTSJ1, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GLOD5, GPKOW, GRIPAP1, HDAC6, INE1, JADE3, KCND1, LINC01560, MAGIX, MIR502, MIR532, NDUFB11, OTUD5, PAGE1, PAGE4, PCSK1N, PIM2, PLP2, PORCN, PPP1R3F, PQBP1, PRAF2, PRICKLE3, RBM10, RBM3, RGN, RP2, SHROOM4, SLC35A2, SLC38A5, SLC9A7, SPACA5, SPACA5B, SSX1, SSX3, SSX4, SSX4B, SSX5, SUV39H1, SYN1, SYP, TBC1D25, TFE3, TIMM17B, TIMP1, UBA1, USP11, USP27X, UXT, WAS, WDR13, WDR45, ZNF157, ZNF182, ZNF41, ZNF630, ZNF81 1 0 0 0 0 0 0 0 0 1
ANKAR, ASNSD1, C2orf88, COL3A1, COL5A2, GLS, HIBCH, INPP1, MFSD6, MSTN, NAB1, NEMP2, ORMDL1, OSGEPL1, PMS1, SLC40A1, STAT1, STAT4, WDR75 0 0 1 0 0 0 0 0 0 1
CACNA1F, CCDC22, CLCN5, FOXP3, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GPKOW, MAGIX, MIR502, MIR532, PAGE1, PAGE4, PLP2, PPP1R3F, PRICKLE3, SYP, USP27X, WDR45 0 0 1 0 0 0 0 0 0 1
CCDC22, FOXP3 0 0 1 0 0 0 0 0 0 1
IL21R 0 1 0 0 0 0 0 0 0 1
STAT1, STAT4 1 0 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association likely risk allele uncertain risk allele not provided total
Labcorp Genetics (formerly Invitae), Labcorp 45 20 324 383 72 0 0 0 0 844
Fulgent Genetics, Fulgent Genetics 5 62 302 66 3 0 0 0 0 438
Illumina Laboratory Services, Illumina 3 1 259 33 50 0 0 0 0 346
OMIM 52 0 0 0 0 5 0 0 0 57
Revvity Omics, Revvity 1 5 9 0 0 0 0 0 0 15
Baylor Genetics 3 4 7 0 0 0 0 0 0 14
Genome-Nilou Lab 0 0 0 0 11 0 0 0 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 3 0 0 0 0 0 0 0 9
GeneReviews 0 0 0 0 0 0 0 0 8 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 5 2 0 0 0 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 3 3 2 0 0 0 0 0 0 8
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 1 1 1 0 3 1 0 7
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 3 0 0 0 0 0 0 0 6
3billion, Medical Genetics 3 0 2 1 0 0 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 1 0 0 0 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 2 0 0 0 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 4 0 0 0 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 4 0 0 0 0 0 0 0 4
Aleixo Muise Laboratory, Hospital For Sick Children 1 3 0 0 0 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 1 2 0 0 0 0 0 0 0 3
Mendelics 2 0 1 0 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 0 0 0 3
New York Genome Center 0 0 3 0 0 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 2 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 2 0 0 0 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 0 0 0 2
Pediatric Department, Xiangya Hospital, Central South University 0 1 1 0 0 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 0 0 0 1
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 0 1 0 0 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 0 0 0 0 1
Laboratory of Transmission, Control and Immunobiology of Infections, Institut Pasteur de Tunis 1 0 0 0 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 1 1
iDNA Genomics 0 0 0 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 0 0 0 1
Genetics and Epigenetics Laboratory, University of Tehran 0 0 1 0 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 0 0 0 1

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